An evaluation of copy number variation detection tools from whole-exome sequencing data.
about
Detection of Genomic Structural Variants from Next-Generation Sequencing DataCausal variants screened by whole exome sequencing in a patient with maternal uniparental isodisomy of chromosome 10 and a complicated phenotype.Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data.Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.CopywriteR: DNA copy number detection from off-target sequence dataEvaluation of somatic copy number estimation tools for whole-exome sequencing data.Determining multiallelic complex copy number and sequence variation from high coverage exome sequencing dataCoNVaDING: Single Exon Variation Detection in Targeted NGS Data.RareVariantVis: new tool for visualization of causative variants in rare monogenic disorders using whole genome sequencing data.Gene-based comparative analysis of tools for estimating copy number alterations using whole-exome sequencing data.An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.Clinical Genomics: Challenges and OpportunitiesA 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing.Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.Comparison of sequencing based CNV discovery methods using monozygotic twin quartets.The impact of DNA input amount and DNA source on the performance of whole-exome sequencing in cancer epidemiologycnvCurator: an interactive visualization and editing tool for somatic copy number variations.How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samplesAllele-specific copy-number discovery from whole-genome and whole-exome sequencingNew COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.Sacral agenesis: a pilot whole exome sequencing and copy number study.Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.Reliability of algorithmic somatic copy number alteration detection from targeted capture data.Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencingRefCNV: Identification of Gene-Based Copy Number Variants Using Whole Exome Sequencing.Hepatocellular carcinoma cell lines retain the genomic and transcriptomic landscapes of primary human cancers.Integrated small copy number variations and epigenome maps of disorders of sex development.Assessing the reproducibility of exome copy number variations predictions.Sequential model selection-based segmentation to detect DNA copy number variation.A decade of structural variants: description, history and methods to detect structural variation.Whole-genome CNV analysis: advances in computational approachesWhole-exome sequencing as a diagnostic tool: current challenges and future opportunities.Evaluation of three read-depth based CNV detection tools using whole-exome sequencing dataLessons learned from gene identification studies in Mendelian epilepsy disorders.Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disordersAccurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.
P2860
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P2860
An evaluation of copy number variation detection tools from whole-exome sequencing data.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
An evaluation of copy number variation detection tools from whole-exome sequencing data.
@ast
An evaluation of copy number variation detection tools from whole-exome sequencing data.
@en
type
label
An evaluation of copy number variation detection tools from whole-exome sequencing data.
@ast
An evaluation of copy number variation detection tools from whole-exome sequencing data.
@en
prefLabel
An evaluation of copy number variation detection tools from whole-exome sequencing data.
@ast
An evaluation of copy number variation detection tools from whole-exome sequencing data.
@en
P2093
P2860
P356
P1433
P1476
An evaluation of copy number variation detection tools from whole-exome sequencing data.
@en
P2093
Andrew S Allen
Hongzhe Guo
Mingfu Zhu
Qinghua Jiang
Renjie Tan
Sarah E Kleinstein
Yadong Wang
Yongzhuang Liu
P2860
P304
P356
10.1002/HUMU.22537
P50
P577
2014-05-01T00:00:00Z